Globally, thalassaemia is the most prevalent yet preventable genetic blood disorder affecting populations in the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. Over the last few decades, the progress we have made in preventing infectious diseases increases the relative significance of non-infectious diseases, including genetic disorders like thalassaemia.

Advances in thalassaemia care and management combined with commitment of governments in many parts of the world has transformed thalassaemia from a ‘childhood fatal disease’ to a ‘chronic disorder’ requiring multidisciplinary care and compatible with normal life expectancy. Unfortunately, this is not the case in Pakistan. This manuscript aims to reflect on the current situation of thalassaemia in Pakistan, issues faced by patients and families, and the limitations in treatment. Finally, it provides a forward-looking solution through a process of formulating a national policy and strategic plan.

Pakistan is amongst the highest thalassaemia burden countries in the world. The commonly quoted figure for the country is 100,000 transfusion-dependent thalassaemia patients. In the absence of a coherent national policy and strategic plan, the number of thalassaemics in the country is believed to be increasing but the exact burden of the disease is unknown. As a result, despite being a preventable blood disorder, thalassaemia in Pakistan continues to increase in number and cause misery to the patients and their families. Additionally, it also creates a heavy burden on the already resource constrained and stretched national healthcare system, particularly the blood transfusion system. A significant proportion of the blood transfusions carried out in Pakistan is used for thalassaemia patients, but the exact figures also remain unknown. There is a need to better address the thalassaemia situation and concomitant burden on the national healthcare and blood transfusion systems in Pakistan. As no baseline survey has ever been conducted in Pakistan there are no credible statistics about any aspect of thalassaemia in the country. Basic epidemiological and clinical data about the Pakistani thalassaemia population do not exist. Information is also not available about treatment facilities and their access to the patients. Without this basic information it is difficult to convince the policymakers about allocating resources to control and prevent thalassaemia.

Thalassaemia remains a significant public health concern in Pakistan despite the fact that in Sindh and Balochistan, thalassaemia prevention legislation does exist. These legislations propose mandatory pre-marital screening without properly taking into consideration the peculiar dynamics of thalassaemia in Pakistan (non-random distribution of thalassaemia genes) and the current state of the primary and secondary healthcare systems. The thalassaemia gene in Pakistan is not randomly distributed in the population but is restricted mostly to the affected families where inter-marriages are common, leading to gene entrapment and proliferation. Therefore, mass screening is neither cost effective nor a practical strategy for a country like Pakistan. In addition, the legislations do not outline the implementation mechanism nor have the required financial and human resources been allocated to translate them into action. The legislations have been drafted without a public discourse or any dialogue with the thalassaemia community.

The high prevalence of transfusion transmissible infections, mainly hepatitis B and C and in some cases even HIV, in chronic transfusion recipients like thalassaemics is a cause for concern in Pakistan. The main culprit in this regard is the common use of screening kits that are not properly evaluated and validated. In general, these kits have poor sensitivity and are unable to detect low or medium grade infections and thus show false negative results. As a result, unsafe blood transfusions are an important driver of the hepatitis epidemic in the country. The purchase and validation of blood screening kits need to be properly regulated by the government. One of the common side-effects of frequent blood transfusions is the development of allo-antibodies in the thalassaemia patients which cause destruction of the transfused red blood cells unless they are perfectly matched. This causes a reduction in the intervals between subsequent transfusions and other complications in addition to misery, further risk of acquiring infection and expense. This hazard can be prevented by the routine use of leucocyte-filters during blood transfusions as recommended for all patients especially for the chronic transfusion recipients. However, the additional cost involved is a barrier in the routine use of these leucocyte-filters. The market cost of a single use leucocyte-filter is approximately two US dollars. About half of this market sale cost is the customs duty (personal communication). If the government could waive off this customs duty the leucocyte-filters can become more affordable and, hence, improve the quality of treatment of the thalassaemia patients.

In Pakistan, it is estimated that about 2.7 million blood donations are collected every year out of which about a fourth are believed to be consumed by the thalassaemia patients. The government of Pakistan is making strenuous efforts to reform the blood transfusion system in the country through the Safe Blood Transfusion Programme with the financial support of the German government and the technical assistance of the World Health Organisation. The Programme is making efforts to manage the system according to international recommendations and one of the most important beneficiaries of these reforms is the thalassaemia cohort of patients in Pakistan. As a result of the increased awareness about thalassaemia, more cases are now being diagnosed and much earlier than before. Because the public sector hospitals cannot cater to the large number of thalassaemia patients, there has been a proliferation of private/NGO thalassaemia centres across the country particularly in the larger urban centres. But the exact number of these centres either in the public or the private/NGO sector remains unknown. The standard of services in these centres varies. The centres in the private NGO are often established on philanthropic principles by the affected families but many of these centres lack the required technical expertise. More emphasis is paid on getting blood transfusions, where iron chelation therapy and other medical support is often neglected. The life span of the patients has no doubt increased as a result of blood transfusions but in the absence of simultaneous removal of excess iron and other medical coverage, the overall management is compromised. As a result, many patients in Pakistan present with complications or signs of mismanagement, etc. As the patients become adolescents, they require multi-disciplinary care which is not institutionally available in the country.

Despite this generally dismal picture many centres exist which take good care of their patients. Some of these centres are so well managed that patients appear completely normal and healthy, similar to the countries where thalassaemia patients are well looked after. These patients are well motivated, pursue higher education, follow a career, earn their livelihood, contribute to the society and even get married.

Several countries, including Iran, Cyprus, Italy, and Greece had a much higher burden than Pakistan but managed to successfully eradicate thalassaemia from their society. These countries have not reported any new thalassaemia major births for many years. At the same time these countries have developed excellent healthcare programs for properly managing their existing thalassaemia population. Unfortunately, Pakistani thalassaemia patients and their families have no real voice. In the absence of proper health regulatory system and the chronic shortages of blood and other resources, the patients and their families need a national level platform to share their grievances, experiences and expectations. There is also a need to have a platform at the federal level from where the national effort to prevent and manage thalassaemia in the country can be developed and translated into action. This platform should deliberate on developing a national narrative through national consultations involving experts, NGOs, patients, parents, and other stakeholders – a ‘Technical Advisory Group on Thalassaemia’.

The outcome of this effort should be a comprehensive National Thalassaemia Policy covering with a consensus strategy to manage all aspects of Thalassaemia in Pakistan. Such an approach was adopted in other countries and yielded excellent results. There is no reason why a similar approach, backed by strong political commitment, cannot succeed in Pakistan.

Hasan Abbas Zaheer

The writer is former National Coordinator, Safe Blood Transfusion Programme, at the Ministry of National Health Services.